Barth Syndrome

Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.

Also Known As:

3-Methylglutaconic Aciduria, Type II; 3-Methylglutaconicaciduria Type 2; 3-Methylglutaconicaciduria Type II; Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria; MGA Type 2; MGA Type II; 3 Methylglutaconic Aciduria, Type II; 3 Methylglutaconicaciduria Type 2; 3-Methylglutaconicaciduria Type 2s; 3-Methylglutaconicaciduria Type IIs; MGA Type 2s; MGA Type IIs; Syndrome, Barth; Type 2, 3-Methylglutaconicaciduria; Type 2, MGA; Type 2s, MGA; Type II, MGA; Type IIs, MGA

Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Congenital Heart Defects: 9139
    - Barth Syndrome: 258
- Cardiovascular Abnormalities: 457
  - Congenital Heart Defects: 9139
    - Barth Syndrome: 258
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Cardiovascular Abnormalities: 457
    - Congenital Heart Defects: 9139
      - Barth Syndrome: 258
  - Multiple Abnormalities: 213
    - Barth Syndrome: 258
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Barth Syndrome: 258
  - X-Linked Genetic Diseases: 42
    - Barth Syndrome: 258
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Barth Syndrome: 258
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Barth Syndrome: 258

Graham J Shortland Selected Research

Graham J Shortland Research Topics

Disease

Drug/Important Bio-Agent (IBA)